[Diagnosis of a rare and severe inflammatory bowel disease in an infant with peri-orificial ulcerations]. / Diagnostic d'une maladie inflammatoire rare et sévère de l'intestin chez un nourrisson présentant des ulcérations péri-orificielles.

We report the case of an infant aged 8 and a half months, who had an apparent life-threatening event and died despite optimal resuscitation management. The medical history was marked by mild symptoms, mainly feeding difficulties and progressively settling skin lesions. Parents were related (first cousins) and the patient had two healthy older sisters. Autopsy showed growth delay, symmetrical erythematous and ulcerated periorificial lesions associated with punctiform erythematous lesions of the face and alopecia. Microscopic examination revealed deep bronchial inhalation with the onset of infectious pneumopathy, major inflammatory ulceration of the gastrointestinal tract, hepatic steatosis, brain stem and pancreas abnormalities. We conclude that the cause of death was a multi-visceral failure with inhalation pneumopathy, in a context of very early onset inflammatory bowel disease (VEO-IBD). Genetic consultation, into a rare disease reference center, allowed to orient the analysis, to identify a homozygous pathogenic variant in the IL10RA gene, confirming the diagnostic of an autosomal recessive very early onset inflammatory bowel disease (inflammatory bowel disease 28, early-onset, autosomal recessive, #613148).

Gianotti-Crosti syndrome: a case report of a teenager

Abstract Gianotti-Crosti syndrome is a rare disease characterized by acral papular eruption with symmetrical distribution. It is a benign and self-limited disease; the symptoms disappear after two to eight weeks, without recurrences or scars. Skin lesions are usually asymptomatic. Prodrome might occur, suggesting upper respiratory infection, or constitutional symptoms. Diagnosis is eminently clinical, and this disease is associated with viral infections. Due to its rarity and low occurrence in adolescents and adults, we report a case of Gianotti-Crosti syndrome of a teenager.

[Two cases of proliferation of monoclonal and monotypic lymphocytes and plasma cells corresponding to acrodermatitis chronica atrophicans]. / Prolifération cutanée lympho-plasmocytaire monoclonale et monotypique révélant une acrodermatite chronique atrophiante : deux observations.

BACKGROUND: While a dermal proliferation of monotypic monoclonal lymphocytes and plasma cells suggests above all cutaneous marginal zone lymphoma (CMZL) or plasmacytoma, it may also correspond to a Borrelia infection of which the clinic picture is evocative, as demonstrated in the cases presented herein. PATIENTS AND METHODS: The files of two patients were submitted for discussion at the regional multidisciplinary staff meeting on cutaneous lymphomas after review of the skin biopsies led to a diagnosis of plasmacytoma and CMZL on the basis of infiltrate containing abundant plasma cells. The infiltrates of both patients showed a kappa monotypic light chain and cutaneous B-cell clones were detected. However, the clinical features, with monomelic maculopapular rash, were evocative primarily of Borrelia infection. Diagnosis was confirmed by positive serology and clinical cure was achieved after 3 weeks of oral tetracycline, without relapse. COMMENTS: A link between Borrelia infection and cutaneous lymphomas has long been thought to exist. Further, it is recommended that antibiotics be considered in CMZL before undertaking systemic therapy. The classic histological appearance of the tertiary phase of early-stage Lyme's disease shows perivascular and periadnexal infiltrate comprising lymphocytes and plasma cells. At the later stages, epidermal atrophy occurs with thinning of the dermis. The monoclonal and monotypic nature of skin proliferation points above all to CMZL or plasmacytoma. However, clinicopathological correlation is an essential step before such a diagnosis may be made. In the event of monomelic erythema, as in our patients, it is important to screen for Borrelia infection, which responds well to appropriate treatment.

[Lyme disease acrodermitis chronica atrophicans: misleading vascular signs]. / Acrodermatite atrophiante de Lyme : des signes vasculaires parfois trompeurs.

Lyme disease acrodermatitis chronica atrophicans is a tertiary form of Lyme borrelliosis. It occurs at least six months, but also up to several years, after a tick bite. This rare condition is probably underestimated because of the difficult diagnosis. Clinical presentations of acrodermatitis chronic atrophicans are quite variable depending upon the duration of the disease. Complimentary explorations are difficult to interpret and rarely specific. Only rare configurations allow formal diagnosis of Borrelia burgdoferi infection. We present a patient who exhibited an atypical clinical presentation of Lyme disease acrodermatitis chronic atrophicans. The clinical outcome was quite favorable with treatment, confirming the diagnosis. Such treatments, which are well tolerated and highly effective, are essential since an untreated disease can lead to potentially severe neurological involvement.

Acrodermatitis due to zinc deficiency after combined vertical gastroplasty with jejunoileal bypass: case report / Acrodermatite por deficiência de zinco após associação de gastroplastia vertical com derivação jejuno-ileal: relato de caso

CONTEXT: Nutritional complications may occur after bariatric surgery, due to restriction of food intake and impaired digestion or absorption of nutrients. CASE REPORT: After undergoing vertical gastroplasty and jejunoileal bypass, a female patient presented marked weight loss and protein deficiency. Seven months after the bariatric surgery, she presented dermatological features compatible with acrodermatitis enteropathica, as seen from the plasma zinc levels, which were below the reference values (34.4 mg%). The skin lesions improved significantly after 1,000 mg/day of zinc sulfate supplementation for one week. CONCLUSIONS: The patient's evolution shows that the multidisciplinary team involved in surgical treatment of obesity should take nutritional deficiencies into consideration in the differential diagnosis of skin diseases, in order to institute early treatment.

CONTEXTO: Complicações nutricionais podem ocorrer após cirurgia bariátrica, pela restrição no consumo de alimentos e por comprometimento do processo digestivo e absortivo. RELATO DO CASO: Após ter sido submetida a gastroplastia vertical e derivação jejuno-ileal, uma paciente apresentou acentuada perda de peso e desnutrição proteica. Sete meses após a cirurgia bariátrica, manifestou-se quadro dermatológico compatível com acrodermatite enteropática, verificado a partir dos níveis plasmáticos de zinco (34,4 mg%), que se situavam abaixo dos valores de referência. As lesões cutâneas melhoraram significativamente após 1.000 mg/dia de suplementação de sulfato de zinco, por uma semana. CONCLUSÕES: A evolução da paciente mostra que a equipe multiprofissional envolvida no tratamento cirúrgico da obesidade deve considerar as deficiências nutricionais no diagnóstico diferencial das doenças cutâneas, a fim de instituir precocemente o tratamento.

Alterações do metabolismo do cálcio, ferro, zinco e cobre / Changes in the metabolism of calcium, iron, zinc and copper

Os minerais são imprescindíveis na dieta de todos os seres humanos, mas em excesso podem provocar doenças

Acrodermatitis enteropática, un reto diagnóstico: reporte de caso y revisión de la literatura / Enteropathic achrodermatitis, a diagnostic challenge: case report and literature review / Acrodermatitis enteropática, um diagnóstico do desafio: relatório do caso e revisião da literatura

La acrodermatitis enteropática, una patología de baja incidencia pero de gran relevancia clínica, debe ser reconocida rápida y acertadamente por dermatólogos y pediatras, con el fin de garantizar un tratamiento que controle la rápida progresión de las lesiones y las graves alteraciones sistémicas que pueden acompañar las manifestaciones cutáneas características de la enfermedad. Aunque fue descrita hace setenta años, tan sólo hasta hace quince se logró establecer que su etiología no era infecciosa y que se debía a una deficiencia de zinc, consecuencia de alteraciones genéticas en los trasportadores de este ión. Se reporta el caso de un paciente desnutrido, con baja talla para la edad, con retardo en el desarrollo psicomotor y graves lesiones en la piel, que ingresó al Hospital Militar Central de Bogotá luego de haber recibido en otras instituciones de salud múltiples tratamientos que empeoraron su sintomatología. Se sospechó desde el ingreso de acrodermatitis enteropática, la cual se confirmó con un riguroso examen, obteniéndose resolución total de las lesiones luego de tres semanas de iniciado el tratamiento...

Enteropathic achrodermatitis is of a low incidence but of a great clinical relevance, which must be recognized quickly and accurately by dermatologists and pediatricians, so that the treatment can be given to control the quick progression of the lesions and the serious systemic changes that may associate with the cutaneous signs characteristic of this disease. Although it was initially described 70 years ago, it as not until 15 years ago that it was established that it was not of an infectious etiology but rather due to a zinc deficiency as a consequence of a genetic alteration of the transport mechanism of the ion. This is the case of a malnourished patient, short stature for his age, delayed psychomotor development and severe skin lesions, who was admitted to the Hospital Militar Central de Bogota after being treated in other institutions with multiple therapies which worsened his symptoms. From the start it was suspected that this was enteropathic achrodermatitis, confirmed by thorough testing, and there was complete resolution of the lesions 3 weeks after the treatment was initiated...

O acarodermatites enteropática, uma patologia de incidência baixa mas da relevância clínica grande, deve ser acertada e rapidamente reconhecida por dermatologistas e por pediatras, com a finalidade de garantir um tratamento que possa controlar a progressão rápida das lesões e das alterações sérias sistêmicas que podem acompanhar as manifestações cutâneas características da doença. Embora foi descrita há setenta anos, só faz quinze se conseguiu estabelecer que a sua etiologia não era infecciosa e que se devia a uma deficiência do zinco, conseqüência de alterações genéticas nos transportadores deste íon. Reporta se caso de doente desnutrido, com baixa talha para a idade, retardo do desenvolvimento psicomotor e lesões importantes na pele, Ingresso no Hospital Militar Central de Bogotá após de ter recebido em outras instituições numerosos tratamentos da saúde que aumentarão sua sintomatologia. Suspeito-se no ingresso acarodermatites enteropática, que foi confirmado com um rigoroso exame, obtendo-se resolução total das lesões após três semanas do iniciado o tratamento...